Browsing Journal article - Institute for Biomedicine by Title

Now showing items 146-165 of 455

    • The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks 

      Staunton C; Slokenberga S; Mascalzoni D (2019)
      The General Data Protection Regulation (GDPR) came into force in May 2018. The aspiration of providing for a high level of protection to individuals' personal data risked placing considerable constraints on scientific ...

    • Generation of an induced pluripotent stem cell line (EURACi005-A) from a Parkinson's disease patient carrying a homozygous exon 3 deletion in the PRKN gene 

      Zanon A; Riekschnitz D; von Troyer M; Volpato C; Picard A; Cantaloni C; Di Segni M; Silipigni R; Pramstaller PP; Hicks AA; Pichler I (2019)
      Mutations in the PRKN gene, encoding parkin, are the most frequent known cause of recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line of a patient carrying a homozygous ...

    • Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene 

      Meraviglia V; Benzoni P; Landi S; Murano C; Langione M; Motta BM; Baratto S; Silipigni R; Di Segni M; Pramstaller PP; DiFrancesco D; Gazzerro E; Barbuti A; Rossini A (2018)
      Caveolinopathies are a heterogeneous family of genetic pathologies arising from alterations of the caveolin-3 gene (CAV3), encoding for the isoform specifically constituting muscle caveolae. Here, by reprogramming peripheral ...

    • Generation of Induced Pluripotent Stem Cells from Frozen Buffy Coats using Non-integrating Episomal Plasmids 

      Meraviglia V; Zanon A; Lavdas AA; Schwienbacher C; Silipigni R; Di Segni M; Chen HS; Pramstaller PP; Hicks AA; Rossini A (2015)
      Somatic cells can be reprogrammed into induced pluripotent stem cells (iPSCs) by forcing the expression of four transcription factors (Oct-4, Sox-2, Klf-4, and c-Myc), typically expressed by human embryonic stem cells ...

    • Genes predict village of origin in rural Europe 

      O'Dushlaine C; McQuillan R; Weale ME; Crouch DJ; Johansson A; Aulchenko Y; Franklin CS; Polašek O; Fuchsberger C; Corvin A; Hicks AA; Vitart V; Hayward C; Wild SH; Meitinger T; van Duijn CM; Gyllensten U; Wright AF; Campbell H; Pramstaller PP; Rudan I; Wilson JF (2010)
      The genetic structure of human populations is important in population genetics, forensics and medicine. Using genome-wide scans and individuals with all four grandparents born in the same settlement, we here demonstrate ...

    • Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids 

      Ameur A; Enroth S; Johansson A; Zaboli G; Igl W; Johansson AC; Rivas MA; Daly MJ; Schmitz G; Hicks AA; Meitinger T; Feuk L; van Duijn C; Oostra B; Pramstaller PP; Rudan I; Wright AF; Wilson JF; Campbell H; Gyllensten U (2012)
      Omega-3 and omega-6 long-chain polyunsaturated fatty acids (LC-PUFAs) are essential for the development and function of the human brain. They can be obtained directly from food, e.g., fish, or synthesized from precursor ...

    • Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits 

      Evangelou E; Warren HR; Mosen-Ansorena D; Mifsud B; Pazoki R; Gao H; Ntritsos G; Dimou N; Cabrera CP; Karaman I; Ng FL; Evangelou M; Witkowska K; Tzanis E; Hellwege JN; Giri A; Velez Edwards DR; Sun YV; Cho K; Gaziano JM; Wilson PWF; Tsao PS; Kovesdy CP; Esko T; Mägi R; Milani L; Almgren P; Boutin T; Debette S; Ding J; Giulianini F; Holliday EG; Jackson AU; Li-Gao R; Lin WY; Luan J; Mangino M; Oldmeadow C; Prins BP; Qian Y; Sargurupremraj M; Shah N; Surendran P; Thériault S; Verweij N; Willems SM; Zhao JH; Amouyel P; Connell J; de Mutsert R; Doney ASF; Farrall M; Menni C; Morris AD; Noordam R; Paré G; Poulter NR; Shields DC; Stanton A; Thom S; Abecasis G; Amin N; Arking DE; Ayers KL; Barbieri CM; Batini C; Bis JC; Blake T; Bochud M; Boehnke M; Boerwinkle E; Boomsma DI; Bottinger EP; Braund PS; Brumat M; Campbell A; Campbell H; Chakravarti A; Chambers JC; Chauhan G; Ciullo M; Cocca M; Collins F; Cordell HJ; Davies G; Borst MH; Geus EJ; Deary IJ; Deelen J; Del Greco M F; Demirkale CY; Dörr M; Ehret GB; Elosua R; Enroth S; Erzurumluoglu AM; Ferreira T; Frånberg M; Franco OH; Gandin I; Gasparini P; Giedraitis V; Gieger C; Girotto G; Goel A; Gow AJ; Gudnason V; Guo X; Gyllensten U; Hamsten A; Harris TB; Harris SE; Hartman CA; Havulinna AS; Hicks AA; Hofer E; Hofman A; Hottenga JJ; Huffman JE; Hwang SJ; Ingelsson E; James A; Jansen R; Jarvelin MR; Joehanes R; Johansson Å; Johnson AD; Joshi PK; Jousilahti P; Jukema JW; Jula A; Kähönen M; Kathiresan S; Keavney BD; Khaw KT; Knekt P; Knight J; Kolcic I; Kooner JS; Koskinen S; Kristiansson K; Kutalik Z; Laan M; Larson M; Launer LJ; Lehne B; Lehtimäki T; Liewald DCM; Lin L; Lind L; Lindgren CM; Liu Y; Loos RJF; Lopez LM; Lu Y; Lyytikäinen LP; Mahajan A; Mamasoula C; Marrugat J; Marten J; Milaneschi Y; Morgan A; Morris AP; Morrison AC; Munson PJ; Nalls MA; Nandakumar P; Nelson CP; Niiranen T; Nolte IM; Nutile T; Oldehinkel AJ; Oostra BA; O'Reilly PF; Org E; Padmanabhan S; Palmas W; Palotie A; Pattie A; Penninx BWJH; Perola M; Peters A; Polasek O; Pramstaller PP; Nguyen QT; Raitakari OT; Ren M; Rettig R; Rice K; Ridker PM; Ried JS; Riese H; Ripatti S; Robino A; Rose LM; Rotter JI; Rudan I; Ruggiero D; Saba Y; Sala CF; Salomaa V; Samani NJ; Sarin AP; Schmidt R; Schmidt H; Shrine N; Siscovick D; Smith AV; Snieder H; Sõber S; Sorice R; Starr JM; Stott DJ; Strachan DP; Strawbridge RJ; Sundström J; Swertz MA; Taylor KD; Teumer A; Tobin MD; Tomaszewski M; Toniolo D; Traglia M; Trompet S; Tuomilehto J; Tzourio C; Uitterlinden AG; Vaez A; van der Most PJ; van Duijn CM; Vergnaud AC; Verwoert GC; Vitart V; Völker U; Vollenweider P; Vuckovic D; Watkins H; Wild SH; Willemsen G; Wilson JF; Wright AF; Yao J; Zemunik T; Zhang W; Attia JR; Butterworth AS; Chasman DI; Conen D; Cucca F; Danesh J; Hayward C; Howson JMM; Laakso M; Lakatta EG; Langenberg C; Melander O; Mook-Kanamori DO; Palmer CNA; Risch L; Scott RA; Scott RJ; Sever P; Spector TD; van der Harst P; Wareham NJ; Zeggini E; Levy D; Munroe PB; Newton-Cheh C; Brown MJ; Metspalu A; Hung AM; O'Donnell CJ; Edwards TL; Million Veteran Program; Psaty BM; Tzoulaki I; Barnes MR; Wain LV; Elliott P; Caulfield MJ (2018)
      High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in ...

    • Genetic architecture of circulating lipid levels 

      Demirkan A; Amin N; Isaacs A; Jarvelin MR; Whitfield JB; Wichmann HE; Kyvik KO; Rudan I; Gieger C; Hicks AA; Johansson Å; Hottenga JJ; Smith JJ; Wild SH; Pedersen NL; Willemsen G; Mangino M; Hayward C; Uitterlinden AG; Hofman A; Witteman J; Montgomery GW; Pietiläinen KH; Rantanen T; Kaprio J; Döring A; Pramstaller PP; Gyllensten U; de Geus EJ; Penninx BW; Wilson JF; Rivadeneria F; Magnusson PK; Boomsma DI; Spector T; Campbell H; Hoehne B; Martin NG; Oostra BA; McCarthy M; Peltonen-Palotie L; Aulchenko Y; Visscher PM; Ripatti S; Janssens AC; van Duijn CM; ENGAGE Consortium (2011)
      Serum concentrations of low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), triglycerides (TGs) and total cholesterol (TC) are important heritable risk factors for cardiovascular ...

    • The genetic architecture of type 2 diabetes 

      Fuchsberger C; Flannick J; Teslovich TM; Mahajan A; Agarwala V; Gaulton KJ; Ma C; Fontanillas P; Moutsianas L; McCarthy DJ; Rivas MA; Perry JR; Sim X; Blackwell TW; Robertson NR; Rayner NW; Cingolani P; Locke AE; Fernandez Tajes J; Highland HM; Dupuis J; Chines PS; Lindgren CM; Hartl C; Jackson AU; Chen H; Huyghe JR; van de Bunt M; Pearson RD; Kumar A; Müller-Nurasyid M; Grarup N; Stringham HM; Gamazon ER; Lee J; Chen Y; Scott RA; Below JE; Chen P; Huang J; Go MJ; Stitzel ML; Pasko D; Parker SC; Varga TV; Green T; Beer NL; Day-Williams AG; Ferreira T; Fingerlin T; Horikoshi M; Hu C; Huh I; Ikram MK; Kim BJ; Kim Y; Kim YJ; Kwon MS; Lee S; Lin KH; Maxwell TJ; Nagai Y; Wang X; Welch RP; Yoon J; Zhang W; Barzilai N; Voight BF; Han BG; Jenkinson CP; Kuulasmaa T; Kuusisto J; Manning A; Ng MC; Palmer ND; Balkau B; Stancáková A; Abboud HE; Boeing H; Giedraitis V; Prabhakaran D; Gottesman O; Scott J; Carey J; Kwan P; Grant G; Smith JD; Neale BM; Purcell S; Butterworth AS; Howson JM; Lee HM; Lu Y; Kwak SH; Zhao W; Danesh J; Lam VK; Park KS; Saleheen D; So WY; Tam CH; Afzal U; Aguilar D; Arya R; Aung T; Chan E; Navarro C; Cheng CY; Palli D; Correa A; Curran JE; Rybin D; Farook VS; Fowler SP; Freedman BI; Griswold M; Hale DE; Hicks PJ; Khor CC; Kumar S; Lehne B; Thuillier D; Lim WY; Liu J; van der Schouw YT; Loh M; Musani SK; Puppala S; Scott WR; Yengo L; Tan ST; Taylor HA Jr; Thameem F; Wilson G Sr; Wong TY; Njølstad PR; Levy JC; Mangino M; Bonnycastle LL; Schwarzmayr T; Fadista J; Surdulescu GL; Herder C; Groves CJ; Wieland T; Bork-Jensen J; Brandslund I; Christensen C; Koistinen HA; Doney AS; Kinnunen L; Esko T; Farmer AJ; Hakaste L; Hodgkiss D; Kravic J; Lyssenko V; Hollensted M; Jørgensen ME; Jørgensen T; Ladenvall C; Justesen JM; Käräjämäki A; Kriebel J; Rathmann W; Lannfelt L; Lauritzen T; Narisu N; Linneberg A; Melander O; Milani L; Neville M; Orho-Melander M; Qi L; Qi Q; Roden M; Rolandsson O; Swift A; Rosengren AH; Stirrups K; Wood AR; Mihailov E; Blancher C; Carneiro MO; Maguire J; Poplin R; Shakir K; Fennell T; DePristo M; Hrabé de Angelis M; Deloukas P; Gjesing AP; Jun G; Nilsson P; Murphy J; Onofrio R; Thorand B; Hansen T; Meisinger C; Hu FB; Isomaa B; Karpe F; Liang L; Peters A; Huth C; O'Rahilly SP; Palmer CN; Pedersen O; Rauramaa R; Tuomilehto J; Salomaa V; Watanabe RM; Syvänen AC; Bergman RN; Bharadwaj D; Bottinger EP; Cho YS; Chandak GR; Chan JC; Chia KS; Daly MJ; Ebrahim SB; Langenberg C; Elliott P; Jablonski KA; Lehman DM; Jia W; Ma RC; Pollin TI; Sandhu M; Tandon N; Froguel P; Barroso I; Teo YY; Zeggini E; Loos RJ; Small KS; Ried JS; DeFronzo RA; Grallert H; Glaser B; Metspalu A; Wareham NJ; Walker M; Banks E; Gieger C; Ingelsson E; Im HK; Illig T; Franks PW; Buck G; Trakalo J; Buck D; Prokopenko I; Mägi R; Lind L; Farjoun Y; Owen KR; Gloyn AL; Strauch K; Tuomi T; Kooner JS; Lee JY; Park T; Donnelly P; Morris AD; Hattersley AT; Bowden DW; Collins FS; Atzmon G; Chambers JC; Spector TD; Laakso M; Strom TM; Bell GI; Blangero J; Duggirala R; Tai ES; McVean G; Hanis CL; Wilson JG; Seielstad M; Frayling TM; Meigs JB; Cox NJ; Sladek R; Lander ES; Gabriel S; Burtt NP; Mohlke KL; Meitinger T; Groop L; Abecasis G; Florez JC; Scott LJ; Morris AP; Kang HM; Boehnke M; Altshuler D; McCarthy MI (2016)
      The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified ...

    • Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization 

      Arking DE; Pulit SL; Crotti L; van der Harst P; Munroe PB; Koopmann TT; Sotoodehnia N; Rossin EJ; Morley M; Wang X; Johnson AD; Lundby A; Gudbjartsson DF; Noseworthy PA; Eijgelsheim M; Bradford Y; Tarasov KV; Dörr M; Müller-Nurasyid M; Lahtinen AM; Nolte IM; Smith AV; Bis JC; Isaacs A; Newhouse SJ; Evans DS; Post WS; Waggott D; Lyytikäinen LP; Hicks AA; Eisele L; Ellinghaus D; Hayward C; Navarro P; Ulivi S; Tanaka T; Tester DJ; Chatel S; Gustafsson S; Kumari M; Morris RW; Naluai ÅT; Padmanabhan S; Kluttig A; Strohmer B; Panayiotou AG; Torres M; Knoflach M; Hubacek JA; Slowikowski K; Raychaudhuri S; Kumar RD; Harris TB; Launer LJ; Shuldiner AR; Alonso A; Bader JS; Ehret G; Huang H; Kao WH; Strait JB; Macfarlane PW; Brown M; Caulfield MJ; Samani NJ; Kronenberg F; Willeit J; CARe Consortium; COGENT Consortium; Smith JG; Greiser KH; Meyer Zu Schwabedissen H; Werdan K; Carella M; Zelante L; Heckbert SR; Psaty BM; Rotter JI; Kolcic I; Polašek O; Wright AF; Griffin M; Daly MJ; DCCT/EDIC; Arnar DO; Hólm H; Thorsteinsdottir U; eMERGE Consortium; Denny JC; Roden DM; Zuvich RL; Emilsson V; Plump AS; Larson MG; O'Donnell CJ; Yin X; Bobbo M; D'Adamo AP; Iorio A; Sinagra G; Carracedo A; Cummings SR; Nalls MA; Jula A; Kontula KK; Marjamaa A; Oikarinen L; Perola M; Porthan K; Erbel R; Hoffmann P; Jöckel KH; Kälsch H; Nöthen MM; HRGEN Consortium; den Hoed M; Loos RJ; Thelle DS; Gieger C; Meitinger T; Perz S; Peters A; Prucha H; Sinner MF; Waldenberger M; de Boer RA; Franke L; van der Vleuten PA; Beckmann BM; Martens E; Bardai A; Hofman N; Wilde AA; Behr ER; Dalageorgou C; Giudicessi JR; Medeiros-Domingo A; Barc J; Kyndt F; Probst V; Ghidoni A; Insolia R; Hamilton RM; Scherer SW; Brandimarto J; Margulies K; Moravec CE; Del Greco M F; Fuchsberger C; O'Connell JR; Lee WK; Watt GC; Campbell H; Wild SH; El Mokhtari NE; Frey N; Asselbergs FW; Mateo Leach I; Navis G; van den Berg MP; van Veldhuisen DJ; Kellis M; Krijthe BP; Franco OH; Hofman A; Kors JA; Uitterlinden AG; Witteman JC; Kedenko L; Lamina C; Oostra BA; Abecasis GR; Lakatta EG; Mulas A; Orrú M; Schlessinger D; Uda M; Markus MR; Völker U; Snieder H; Spector TD; Ärnlöv J; Lind L; Sundström J; Syvänen AC; Kivimaki M; Kähönen M; Mononen N; Raitakari OT; Viikari JS; Adamkova V; Kiechl S; Brion M; Nicolaides AN; Paulweber B; Haerting J; Dominiczak AF; Nyberg F; Whincup PH; Hingorani AD; Schott JJ; Bezzina CR; Ingelsson E; Ferrucci L; Gasparini P; Wilson JF; Rudan I; Franke A; Mühleisen TW; Pramstaller PP; Lehtimäki TJ; Paterson AD; Parsa A; Liu Y; van Duijn CM; Siscovick DS; Gudnason V; Jamshidi Y; Salomaa V; Felix SB; Sanna S; Ritchie MD; Stricker BH; Stefansson K; Boyer LA; Cappola TP; Olsen JV; Lage K; Schwartz PJ; Kääb S; Chakravarti A; Ackerman MJ; Pfeufer A; de Bakker PI; Newton-Cheh C (2014)
      The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate ...

    • Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function 

      Pattaro C; Teumer A; Gorski M; Chu AY; Li M; Mijatovic V; Garnaas M; Tin A; Sorice R; Li Y; Taliun D; Olden M; Foster M; Yang Q; Chen MH; Pers TH; Johnson AD; Ko YA; Fuchsberger C; Tayo B; Nalls M; Feitosa MF; Isaacs A; Dehghan A; D'Adamo P; Adeyemo A; Dieffenbach AK; Zonderman AB; ; Nolte IM; van der Most PJ; Wright AF; Shuldiner AR; Morrison AC; Hofman A; Smith AV; Dreisbach AW; Franke A; Uitterlinden AG; Metspalu A; Tonjes A; Lupo A; Robino A; Johansson A; Demirkan A; Kollerits B; Freedman BI; Ponte B; Oostra BA; Paulweber B; Krämer BK (2016)
      Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular ...

    • Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease 

      Tang W; Schwienbacher C; Lopez LM; Ben-Shlomo Y; Oudot-Mellakh T; Johnson AD; Samani NJ; Basu S; Gögele M; Davies G; Lowe GD; Tregouet DA; Tan A; Pankow JS; Tenesa A; Levy D; Volpato CB; Rumley A; Gow AJ; Minelli C; Yarnell JW; Porteous DJ; Starr JM; Gallacher J; Boerwinkle E; Visscher PM; Pramstaller PP; Cushman M; Emilsson V; Plump AS; Matijevic N; Morange PE; Deary IJ; Hicks AA; Folsom AR (2012)
      Activated partial thromboplastin time (aPTT) and prothrombin time (PT) are clinical tests commonly used to screen for coagulation-factor deficiencies. One genome-wide association study (GWAS) has been reported previously ...

    • Genetic determinants of circulating sphingolipid concentrations in European populations 

      Hicks AA; Pramstaller PP; Johansson A; Vitart V; Rudan I; Ugocsai P; Aulchenko Y; Franklin CS; Liebisch G; Erdmann J; Jonasson I; Zorkoltseva IV; Pattaro C; Hayward C; Isaacs A; Hengstenberg C; Campbell S; Gnewuch C; Janssens AC; Kirichenko AV; König IR; Marroni F; Polasek O; Demirkan A; Kolcic I; Schwienbacher C; Igl W; Biloglav Z; Witteman JC; Pichler I; Zaboli G; Axenovich TI; Peters A; Schreiber S; Wichmann HE; Schunkert H; Hastie N; Oostra BA; Wild SH; Meitinger T; Gyllensten U; van Duijn CM; Wilson JF; Wright A; Schmitz G; Campbell H (2009)
      Sphingolipids have essential roles as structural components of cell membranes and in cell signalling, and disruption of their metabolism causes several diseases, with diverse neurological, psychiatric, and metabolic ...

    • Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium 

      Moayyeri A; Hsu YH; Karasik D; Estrada K; Xiao SM; Nielson C; Srikanth P; Giroux S; Wilson SG; Zheng HF; Smith AV; Pye SR; Leo PJ; Teumer A; Hwang JY; Ohlsson C; McGuigan F; Minster RL; Hayward C; Olmos JM; Lyytikäinen LP; Lewis JR; Swart KM; Masi L; Oldmeadow C; Holliday EG; Cheng S; van Schoor NM; Harvey NC; Kruk M; Del Greco M F; Igl W; Trummer O; Grigoriou E; Luben R; Liu CT; Zhou Y; Oei L; Medina-Gomez C; Zmuda J; Tranah G; Brown SJ; Williams FM; Soranzo N; Jakobsdottir J; Siggeirsdottir K; Holliday KL; Hannemann A; Go MJ; Garcia M; Polasek O; Laaksonen M; Zhu K; Enneman AW; McEvoy M; Peel R; Sham PC; Jaworski M; Johansson Å; Hicks AA; Pludowski P; Scott R; Dhonukshe-Rutten RA; van der Velde N; Kähönen M; Viikari JS; Sievänen H; Raitakari OT; González-Macías J; Hernández JL; Mellström D; Ljunggren O; Cho YS; Völker U; Nauck M; Homuth G; Völzke H; Haring R; Brown MA; McCloskey E; Nicholson GC; Eastell R; Eisman JA; Jones G; Reid IR; Dennison EM; Wark J; Boonen S; Vanderschueren D; Wu FC; Aspelund T; Richards JB; Bauer D; Hofman A; Khaw KT; Dedoussis G; Obermayer-Pietsch B; Gyllensten U; Pramstaller PP; Lorenc RS; Cooper C; Kung AW; Lips P; Alen M; Attia J; Brandi ML; de Groot LC; Lehtimäki T; Riancho JA; Campbell H; Liu Y; Harris TB; Akesson K; Karlsson M; Lee JY; Wallaschofski H; Duncan EL; O'Neill TW; Gudnason V; Spector TD; Rousseau F; Orwoll E; Cummings SR; Wareham NJ; Rivadeneira F; Uitterlinden AG; Prince RL; Kiel DP; Reeve J; Kaptoge SK (2014)
      Quantitative ultrasound of the heel captures heel bone properties that independently predict fracture risk and, with bone mineral density (BMD) assessed by X-ray (DXA), may be convenient alternatives for evaluating ...

    • Genetic structure in contemporary south Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms 

      Pichler I; Mueller JC; Stefanov SA; De Grandi A; Volpato CB; Pinggera GK; Mayr A; Ogriseg M; Ploner F; Meitinger T; Pramstaller PP (2006)
      Most of the inhabitants of South Tyrol in the eastern Italian Alps can be considered isolated populations because of their physical separation by mountain barriers and their sociocultural heritage. We analyzed the genetic ...

    • Genetic structure in contemporary South Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms. 2006 

      Pichler I; Mueller JC; Stefanov SA; De Grandi A; Volpato CB; Pinggera GK; Mayr A; Ogriseg M; Ploner F; Meitinger T; Pramstaller PP (2009)

    • Genetic studies of body mass index yield new insights for obesity biology 

      Locke AE; Kahali B; Berndt SI; Justice AE; Pers TH; Day FR; Powell C; Vedantam S; Buchkovich ML; Yang J; Croteau-Chonka DC; Esko T; Fall T; Ferreira T; Gustafsson S; Kutalik Z; Luan J; Mägi R; Randall JC; Winkler TW; Wood AR; Workalemahu T; Faul JD; Smith JA; Hua Zhao J; Zhao W; Chen J; Fehrmann R; Hedman ÅK; Karjalainen J; Schmidt EM; Absher D; Amin N; Anderson D; Beekman M; Bolton JL; Bragg-Gresham JL; Buyske S; Demirkan A; Deng G; Ehret GB; Feenstra B; Feitosa MF; Fischer K; Goel A; Gong J; Jackson AU; Kanoni S; Kleber ME; Kristiansson K; Lim U; Lotay V; Mangino M; Mateo Leach I; Medina-Gomez C; Medland SE; Nalls MA; Palmer CD; Pasko D; Pechlivanis S; Peters MJ; Prokopenko I; Shungin D; Stančáková A; Strawbridge RJ; Ju Sung Y; Tanaka T; Teumer A; Trompet S; van der Laan SW; van Setten J; van Vliet-Ostaptchouk JV; Wang Z; Yengo L; Zhang W; Isaacs A; Albrecht E; Ärnlöv J; Arscott GM; Attwood AP; Bandinelli S; Barrett A; Bas IN; Bellis C; Bennett AJ; Berne C; Blagieva R; Blüher M; Böhringer S; Bonnycastle LL; Böttcher Y; Boyd HA; Bruinenberg M; Caspersen IH; Ida Chen YD; Clarke R; Daw EW; de Craen AJ; Delgado G; Dimitriou M; Doney AS; Eklund N; Estrada K; Eury E; Folkersen L; Fraser RM; Garcia ME; Geller F; Giedraitis V; Gigante B; Go AS; Golay A; Goodall AH; Gordon SD; Gorski M; Grabe HJ; Grallert H; Grammer TB; Gräßler J; Grönberg H; Groves CJ; Gusto G; Haessler J; Hall P; Haller T; Hallmans G; Hartman CA; Hassinen M; Hayward C; Heard-Costa NL; Helmer Q; Hengstenberg C; Holmen O; Hottenga JJ; James AL; Jeff JM; Johansson Å; Jolley J; Juliusdottir T; Kinnunen L; Koenig W; Koskenvuo M; Kratzer W; Laitinen J; Lamina C; Leander K; Lee NR; Lichtner P; Lind L; Lindström J; Sin Lo K; Lobbens S; Lorbeer R; Lu Y; Mach F; Magnusson PK; Mahajan A; McArdle WL; McLachlan S; Menni C; Merger S; Mihailov E; Milani L; Moayyeri A; Monda KL; Morken MA; Mulas A; Müller G; Müller-Nurasyid M; Musk AW; Nagaraja R; Nöthen MM; Nolte IM; Pilz S; Rayner NW; Renstrom F; Rettig R; Ried JS; Ripke S; Robertson NR; Rose LM; Sanna S; Scharnagl H; Scholtens S; Schumacher FR; Scott WR; Seufferlein T; Shi J; Vernon Smith A; Smolonska J; Stanton AV; Steinthorsdottir V; Stirrups K; Stringham HM; Sundström J; Swertz MA; Swift AJ; Syvänen AC; Tan ST; Tayo BO; Thorand B; Thorleifsson G; Tyrer JP; Uh HW; Vandenput L; Verhulst FC; Vermeulen SH; Verweij N; Vonk JM; Waite LL; Warren HR; Waterworth D; Weedon MN; Wilkens LR; Willenborg C; Wilsgaard T; Wojczynski MK; Wong A; Wright AF; Zhang Q; LifeLines Cohort Study; Brennan EP; Choi M; Dastani Z; Drong AW; Eriksson P; Franco-Cereceda A; Gådin JR; Gharavi AG; Goddard ME; Handsaker RE; Huang J; Karpe F; Kathiresan S; Keildson S; Kiryluk K; Kubo M; Lee JY; Liang L; Lifton RP; Ma B; McCarroll SA; McKnight AJ; Min JL; Moffatt MF; Montgomery GW; Murabito JM; Nicholson G; Nyholt DR; Okada Y; Perry JR; Dorajoo R; Reinmaa E; Salem RM; Sandholm N; Scott RA; Stolk L; Takahashi A; Van't Hooft FM; Vinkhuyzen AA; Westra HJ; Zheng W; Zondervan KT; ADIPOGen Consortium; AGEN-BMI Working Group; CARDIOGRAMplusC4D Consortium; CKDGen Consortium; GLGC; ICBP; MAGIC Investigators; MuTHER Consortium; MIGen Consortium; PAGE Consortium; ReproGen Consortium; GENIE Consortium; International Endogene Consortium; Heath AC; Arveiler D; Bakker SJ; Beilby J; Bergman RN; Blangero J; Bovet P; Campbell H; Caulfield MJ; Cesana G; Chakravarti A; Chasman DI; Chines PS; Collins FS; Crawford DC; Cupples LA; Cusi D; Danesh J; de Faire U; den Ruijter HM; Dominiczak AF; Erbel R; Erdmann J; Eriksson JG; Farrall M; Felix SB; Ferrannini E; Ferrières J; Ford I; Forouhi NG; Forrester T; Franco OH; Gansevoort RT; Gejman PV; Gieger C; Gottesman O; Gudnason V; Gyllensten U; Hall AS; Harris TB; Hattersley AT; Hicks AA; Hindorff LA; Hingorani AD; Hofman A; Homuth G; Hovingh GK; Humphries SE; Hunt SC; Hyppönen E; Illig T; Jacobs KB; Jarvelin MR; Jöckel KH; Johansen B; Jousilahti P; Jukema JW; Jula AM; Kaprio J; Kastelein JJ; Keinanen-Kiukaanniemi SM; Kiemeney LA; Knekt P; Kooner JS; Kooperberg C; Kovacs P; Kraja AT; Kumari M; Kuusisto J; Lakka TA; Langenberg C; Le Marchand L; Lehtimäki T; Lyssenko V; Männistö S; Marette A; Matise TC; McKenzie CA; McKnight B; Moll FL; Morris AD; Morris AP; Murray JC; Nelis M; Ohlsson C; Oldehinkel AJ; Ong KK; Madden PA; Pasterkamp G; Peden JF; Peters A; Postma DS; Pramstaller PP; Price JF; Qi L; Raitakari OT; Rankinen T; Rao DC; Rice TK; Ridker PM; Rioux JD; Ritchie MD; Rudan I; Salomaa V; Samani NJ; Saramies J; Sarzynski MA; Schunkert H; Schwarz PE; Sever P; Shuldiner AR; Sinisalo J; Stolk RP; Strauch K; Tönjes A; Trégouët DA; Tremblay A; Tremoli E; Virtamo J; Vohl MC; Völker U; Waeber G; Willemsen G; Witteman JC; Zillikens MC; Adair LS; Amouyel P; Asselbergs FW; Assimes TL; Bochud M; Boehm BO; Boerwinkle E; Bornstein SR; Bottinger EP; Bouchard C; Cauchi S; Chambers JC; Chanock SJ; Cooper RS; de Bakker PI; Dedoussis G; Ferrucci L; Franks PW; Froguel P; Groop LC; Haiman CA; Hamsten A; Hui J; Hunter DJ; Hveem K; Kaplan RC; Kivimaki M; Kuh D; Laakso M; Liu Y; Martin NG; März W; Melbye M; Metspalu A; Moebus S; Munroe PB; Njølstad I; Oostra BA; Palmer CN; Pedersen NL; Perola M; Pérusse L; Peters U; Power C; Quertermous T; Rauramaa R; Rivadeneira F; Saaristo TE; Saleheen D; Sattar N; Schadt EE; Schlessinger D; Slagboom PE; Snieder H; Spector TD; Thorsteinsdottir U; Stumvoll M; Tuomilehto J; Uitterlinden AG; Uusitupa M; van der Harst P; Walker M; Wallaschofski H; Wareham NJ; Watkins H; Weir DR; Wichmann HE; Wilson JF; Zanen P; Borecki IB; Deloukas P; Fox CS; Heid IM; O'Connell JR; Strachan DP; Stefansson K; van Duijn CM; Abecasis GR; Franke L; Frayling TM; McCarthy MI; Visscher PM; Scherag A; Willer CJ; Boehnke M; Mohlke KL; Lindgren CM; Beckmann JS; Barroso I; North KE; Ingelsson E; Hirschhorn JN; Loos RJ; Speliotes EK (2015)
      Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure ...

    • The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives 

      Pattaro C; Marroni F; Riegler A; Mascalzoni D; Pichler I; Volpato CB; Dal Cero U; De Grandi A; Egger C; Eisendle A; Fuchsberger C; Gögele M; Pedrotti S; Pinggera GK; Stefanov SA; Vogl FD; Wiedermann CJ; Meitinger T; Pramstaller PP (2007)
      BACKGROUND: There is increasing evidence of the important role that small, isolated populations could play in finding genes involved in the etiology of diseases. For historical and political reasons, South Tyrol, the ...

    • Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk 

      International Consortium for Blood Pressure Genome-Wide Association Studies; Ehret GB; Munroe PB; Rice KM; Bochud M; Johnson AD; Chasman DI; Smith AV; Tobin MD; Verwoert GC; Hwang SJ; Pihur V; Vollenweider P; O'Reilly PF; Amin N; Bragg-Gresham JL; Teumer A; Glazer NL; Launer L; Zhao JH; Aulchenko Y; Heath S; Sõber S; Parsa A; Luan J; Arora P; Dehghan A; Zhang F; Lucas G; Hicks AA; Jackson AU; Peden JF; Tanaka T; Wild SH; Rudan I; Igl W; Milaneschi Y; Parker AN; Fava C; Chambers JC; Fox ER; Kumari M; Go MJ; van der Harst P; Kao WH; Sjögren M; Vinay DG; Alexander M; Tabara Y; Shaw-Hawkins S; Whincup PH; Liu Y; Shi G; Kuusisto J; Tayo B; Seielstad M; Sim X; Nguyen KD; Lehtimäki T; Matullo G; Wu Y; Gaunt TR; Onland-Moret NC; Cooper MN; Platou CG; Org E; Hardy R; Dahgam S; Palmen J; Vitart V; Braund PS; Kuznetsova T; Uiterwaal CS; Adeyemo A; Palmas W; Campbell H; Ludwig B; Tomaszewski M; Tzoulaki I; Palmer ND; CARDIoGRAM Consortium; CKDGen Consortium; KidneyGen Consortium; EchoGen consortium; CHARGE-HF consortium; Aspelund T; Garcia M; Chang YP; O'Connell JR; Steinle NI; Grobbee DE; Arking DE; Kardia SL; Morrison AC; Hernandez D; Najjar S; McArdle WL; Hadley D; Brown MJ; Connell JM; Hingorani AD; Day IN; Lawlor DA; Beilby JP; Lawrence RW; Clarke R; Hopewell JC; Ongen H; Dreisbach AW; Li Y; Young JH; Bis JC; Kähönen M; Viikari J; Adair LS; Lee NR; Chen MH; Olden M; Pattaro C; Bolton JA; Köttgen A; Bergmann S; Mooser V; Chaturvedi N; Frayling TM; Islam M; Jafar TH; Erdmann J; Kulkarni SR; Bornstein SR; Grässler J; Groop L; Voight BF; Kettunen J; Howard P; Taylor A; Guarrera S; Ricceri F; Emilsson V; Plump A; Barroso I; Khaw KT; Weder AB; Hunt SC; Sun YV; Bergman RN; Collins FS; Bonnycastle LL; Scott LJ; Stringham HM; Peltonen L; Perola M; Vartiainen E; Brand SM; Staessen JA; Wang TJ; Burton PR; Soler Artigas M; Dong Y; Snieder H; Wang X; Zhu H; Lohman KK; Rudock ME; Heckbert SR; Smith NL; Wiggins KL; Doumatey A; Shriner D; Veldre G; Viigimaa M; Kinra S; Prabhakaran D; Tripathy V; Langefeld CD; Rosengren A; Thelle DS; Corsi AM; Singleton A; Forrester T; Hilton G; McKenzie CA; Salako T; Iwai N; Kita Y; Ogihara T; Ohkubo T; Okamura T; Ueshima H; Umemura S; Eyheramendy S; Meitinger T; Wichmann HE; Cho YS; Kim HL; Lee JY; Scott J; Sehmi JS; Zhang W; Hedblad B; Nilsson P; Smith GD; Wong A; Narisu N; Stancáková A; Raffel LJ; Yao J; Kathiresan S; O'Donnell CJ; Schwartz SM; Ikram MA; Longstreth WT; Mosley TH; Seshadri S; Shrine NR; Wain LV; Morken MA; Swift AJ; Laitinen J; Prokopenko I; Zitting P; Cooper JA; Humphries SE; Danesh J; Rasheed A; Goel A; Hamsten A; Watkins H; Bakker SJ; van Gilst WH; Janipalli CS; Mani KR; Yajnik CS; Hofman A; Mattace-Raso FU; Oostra BA; Demirkan A; Isaacs A; Rivadeneira F; Lakatta EG; Orru M; Scuteri A; Ala-Korpela M; Kangas AJ; Lyytikäinen LP; Soininen P; Tukiainen T; Würtz P; Ong RT; Dörr M; Kroemer HK; Völker U; Völzke H; Galan P; Hercberg S; Lathrop M; Zelenika D; Deloukas P; Mangino M; Spector TD; Zhai G; Meschia JF; Nalls MA; Sharma P; Terzic J; Kumar MV; Denniff M; Zukowska-Szczechowska E; Wagenknecht LE; Fowkes FG; Charchar FJ; Schwarz PE; Hayward C; Guo X; Rotimi C; Bots ML; Brand E; Samani NJ; Polasek O; Talmud PJ; Nyberg F; Kuh D; Laan M; Hveem K; Palmer LJ; van der Schouw YT; Casas JP; Mohlke KL; Vineis P; Raitakari O; Ganesh SK; Wong TY; Tai ES; Cooper RS; Laakso M; Rao DC; Harris TB; Morris RW; Dominiczak AF; Kivimaki M; Marmot MG; Miki T; Saleheen D; Chandak GR; Coresh J; Navis G; Salomaa V; Han BG; Zhu X; Kooner JS; Melander O; Ridker PM; Bandinelli S; Gyllensten UB; Wright AF; Wilson JF; Ferrucci L; Farrall M; Tuomilehto J; Pramstaller PP; Elosua R; Soranzo N; Sijbrands EJ; Altshuler D; Loos RJ; Shuldiner AR; Gieger C; Meneton P; Uitterlinden AG; Wareham NJ; Gudnason V; Rotter JI; Rettig R; Uda M; Strachan DP; Witteman JC; Hartikainen AL; Beckmann JS; Boerwinkle E; Vasan RS; Boehnke M; Larson MG; Järvelin MR; Psaty BM; Abecasis GR; Chakravarti A; Elliott P; van Duijn CM; Newton-Cheh C; Levy D; Caulfield MJ; Johnson T (2011)
      Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (≥140 mm Hg systolic blood pressure or  ≥90 mm Hg ...

    • Genetic variants in RBFOX3 are associated with sleep latency 

      Amin N; Allebrandt KV; van der Spek A; Müller-Myhsok B; Hek K; Teder-Laving M; Hayward C; Esko T; van Mill JG; Mbarek H; Watson NF; Melville SA; Del Greco M F; Byrne EM; Oole E; Kolcic I; Chen TH; Evans DS; Coresh J; Vogelzangs N; Karjalainen J; Willemsen G; Gharib SA; Zgaga L; Mihailov E; Stone KL; Campbell H; Brouwer RW; Demirkan A; Isaacs A; Dogas Z; Marciante KD; Campbell S; Borovecki F; Luik AI; Li M; Hottenga JJ; Huffman JE; van den Hout MC; Cummings SR; Aulchenko YS; Gehrman PR; Uitterlinden AG; Wichmann HE; Müller-Nurasyid M; Fehrmann RS; Montgomery GW; Hofman A; Kao WH; Oostra BA; Wright AF; Vink JM; Wilson JF; Pramstaller PP; Hicks AA; Polasek O; Punjabi NM; Redline S; Psaty BM; Heath AC; Merrow M; Tranah GJ; Gottlieb DJ; Boomsma DI; Martin NG; Rudan I; Tiemeier H; van IJcken WF; Penninx BW; Metspalu A; Meitinger T; Franke L; Roenneberg T; van Duijn CM (2016)
      Time to fall asleep (sleep latency) is a major determinant of sleep quality. Chronic, long sleep latency is a major characteristic of sleep-onset insomnia and/or delayed sleep phase syndrome. In this study we aimed to ...